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Details for SOX10:c.767C>T, p.Pro256Leu

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
38370136	37974129

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.767C>T

PROTEIN CHANGE

p.Pro256Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.426e-05	0.0	0.0	0.0	0.0	0.0	4.497e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.779202	Polymorphism

DBSNP ID

1 combination linked to SOX10:c.767C>T, p.Pro256Leu

1 disease linked to SOX10:c.767C>T, p.Pro256Leu

Kallmann syndrome

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